Linked Data
dbSNP Id:
rs553917123
gnomAD v2:
14-70633171-A-C
gnomAD v3:
14-70166454-A-C
gnomAD v4:
14-70166454-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.70166454A>C , CM000676.2:g.70166454A>C | GRCh38 |
| NC_000014.8:g.70633171A>C , CM000676.1:g.70633171A>C | GRCh37 |
| NC_000014.7:g.69702924A>C | NCBI36 |
| NG_047080.1:g.62159T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528359.6:c.1784+185T>G | ENSP00000433531.1:n.1784+185T>G | |
| ENST00000705391.1:c.1784+185T>G | ENSP00000516120.1:n.1784+185T>G | |
| ENST00000356921.7:c.1784+185T>G MANE Select | ENSP00000349392.3:n.1784+185T>G | |
| ENST00000356921.6:c.1784+185T>G | ENSP00000349392.2:n.1784+185T>G | |
| ENST00000357887.7:c.1784+185T>G | ENSP00000350560.3:n.1784+185T>G | |
| ENST00000381269.6:c.1784+185T>G | ENSP00000370669.2:n.1784+185T>G | |
| ENST00000494208.5:c.1784+185T>G | ENSP00000436332.1:n.1784+185T>G | |
| ENST00000528359.5:c.1784+185T>G | ENSP00000433531.1:n.1784+185T>G | |
| ENST00000534137.5:c.1784+185T>G | ENSP00000436688.1:n.1784+185T>G | |
| NM_033262.4:c.1784+185T>G | NP_150287.1:n.1784+185T>G | |
| NM_058240.3:c.1784+185T>G | NP_489479.1:n.1784+185T>G | |
| NM_182932.2:c.1784+185T>G | NP_891977.1:n.1784+185T>G | |
| NM_183002.2:c.1784+185T>G | NP_892114.1:n.1784+185T>G | |
| NR_104122.1:n.2538+185T>G | ||
| XM_005268017.1:c.1784+185T>G | XP_005268074.1:n.1784+185T>G | |
| XM_005268018.2:c.1253+185T>G | XP_005268075.2:n.1253+185T>G | |
| XM_011537101.1:c.1784+185T>G | XP_011535403.1:n.1784+185T>G | |
| XM_011537102.1:c.1784+185T>G | XP_011535404.1:n.1784+185T>G | |
| XM_017021606.1:c.1784+185T>G | XP_016877095.1:n.1784+185T>G | |
| XM_017021607.1:c.1784+185T>G | XP_016877096.1:n.1784+185T>G | |
| XM_017021608.1:c.1784+185T>G | XP_016877097.1:n.1784+185T>G | |
| XM_017021609.1:c.1784+185T>G | XP_016877098.1:n.1784+185T>G | |
| XM_017021610.1:c.1841T>G | XP_016877099.1:p.Val614Gly | |
| NM_058240.4:c.1784+185T>G | NP_489479.1:n.1784+185T>G | |
| NM_182932.3:c.1784+185T>G MANE Select | NP_891977.1:n.1784+185T>G | |
| NM_183002.3:c.1784+185T>G | NP_892114.1:n.1784+185T>G | |
| NR_104122.2:n.2419+185T>G | ||
| NM_033262.5:c.1784+185T>G | NP_150287.1:n.1784+185T>G |